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Metadata
ID DOID:0111517
Name autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
Definition A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SLC25A4 gene on chromosome 4q35.1.
https://www.ncbi.nlm.nih.gov/pubmed/10926541
Xrefs

OMIM:609283

Synonyms

autosomal dominant progressive external ophthalmoplegia 2 [EXACT]

PEOA2 [EXACT]

Parent Relationships

is_a chronic progressive external ophthalmoplegia

is_a autosomal dominant disease

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